THE CLINICAL-FEATURES OF HOMOZYGOUS ALPHA-2(I) COLLAGEN DEFICIENT OSTEOGENESIS IMPERFECTA
THE CLINICAL-FEATURES OF HOMOZYGOUS ALPHA-2(I) COLLAGEN DEFICIENT OSTEOGENESIS IMPERFECTA
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DOI：
10.1136/jmg.21.4.257
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发表时间：
1984-01-01
影响因子：
4
通讯作者：
POPE, FM
中科院分区：
文献类型：
--
作者：
NICHOLLS, AC;OSSE, G;POPE, FM
描述了患有纯合α2(I)胶原缺乏症的儿童的详细临床特征和进展。临床上，该病表现为严重进行性Sillence III型成骨不全症。主要的生化缺陷是异常的pro.alpha.2(I)链的合成，该链不与pro.alpha.1(I)链缔合，因此不并入可用于组装胶原纤维的I型原胶原的三螺旋三聚体中。
The detailed clinical features and progress of a child with homozygous .alpha.2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro .alpha.2(I) chain which does not associate with pro .alpha.1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibers.